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GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

Han R, Wang X, Wang D, Wang L, Yuan Z, Ying M, Li N - Sci Rep (2015)

Bottom Line: In this study, five Chinese families initially diagnosed as X-linked congenital nystagmus were recruited and patients underwent ophthalmological examinations.After direct sequencing of the FRMD7 and GPR143 genes, five mutations in GPR143 gene were detected in each of the five families, including a novel nonsense mutation of c.333G>A (p.W111X), two novel splicing mutations of c.360+1G>C and c.659-1G>A, a novel small deletion mutation of c.43_50dupGACGCAGC (p.L20PfsX25), and a previously reported missense mutation of c.703G>A (p.E235K).Our study further expands the GPR143 mutation spectrum and contributes to the study of GPR143 molecular pathogenesis.

View Article: PubMed Central - PubMed

Affiliation: 1] Tianjin Medical University, Tianjin, 300070, People's Republic of China [2] Molecular Genetic Department, Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin, 300020, People's Republic of China.

ABSTRACT
The ocular albinism type I (OA1) is clinically characterized by impaired visual acuity, nystagmus, iris hypopigmentation with translucency, albinotic fundus, and macular hypoplasia together with normally pigmented skin and hair. However, it is easily misdiagnosed as congenital idiopathic nystagmus in some Chinese patients with OA1 caused by the G-protein coupled receptor 143 (GPR143) gene mutations. Mutations in the FERM domain-containing 7 (FRMD7) gene are responsible for the X-linked congenital idiopathic nystagmus. In this study, five Chinese families initially diagnosed as X-linked congenital nystagmus were recruited and patients underwent ophthalmological examinations. After direct sequencing of the FRMD7 and GPR143 genes, five mutations in GPR143 gene were detected in each of the five families, including a novel nonsense mutation of c.333G>A (p.W111X), two novel splicing mutations of c.360+1G>C and c.659-1G>A, a novel small deletion mutation of c.43_50dupGACGCAGC (p.L20PfsX25), and a previously reported missense mutation of c.703G>A (p.E235K). Optical coherence tomography (OCT) examination showed foveal hypoplasia in all the affected patients with nystagmus. Our study further expands the GPR143 mutation spectrum and contributes to the study of GPR143 molecular pathogenesis. Molecular diagnosis and optical coherence tomography (OCT) are two useful tools for differential diagnosis.

No MeSH data available.


Related in: MedlinePlus

Photographs of OCT examination.Compared with a normal control (B), the patients (A) carrying with GPR143 gene mutations showed macular hypoplasiain OCT examination.
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f3: Photographs of OCT examination.Compared with a normal control (B), the patients (A) carrying with GPR143 gene mutations showed macular hypoplasiain OCT examination.

Mentions: All the families (NYS-17, NYS-18, NYS-19, NYS-20, and NYS-21) were referred to Tianjin Eye Hospital for congenital nystagmus. We evaluated the clinical features for 9 patients and 5 female carriers in these five families (Table 1). The most common clinical features among the patients were nystagmus, impaired visual acuity, variable hypopigmentation in the fundus and macular hypoplasia detected by OCT. However, iris hypopigmentation with translucency was not evident. With the exception of the proband in the NYS-18 family, having a chin-down head position to compensate his vertical nystagmus, other probands in the NYS-17, NYS-19, NYS-20, and NYS-21 families showed a horizontal pendular nystagmus in the primary eye position without a compensative head position. In addition, exotropia was one of the clinical features in the NYS-17 family. The NYS-17 family was a large highly consanguineous family including 11 patients and 6 female carriers (Fig. 1). The individual III:1 was a 65-year-old male diagnosed with congenital nystagmus combined with exotropia. He married his cousin (individual III:2), a female carrier without nystagmus and exotropia. In his family, two of his daughters (individual IV:1 and individual IV:3) were affected patients with nystagmus and exotropia, and one of his daughters was a female carrier (individual IV:5) without nystagmus and exotropia. The individual IV:3 was the proband in the NYS-17 family and diagnosed with congenital nystagmus combined with exotropia. She developed nystagmus at the age of 3 to 4 months, and had horizontal pendular nystagmus and exotropia of 20° in the primary eye position with best corrected visual acuity of 0.1 in both her eyes. Photographs of her fundus showed hypopigmentation in the posterior of the fundus and allowed visualization of the choroidal vessels (Fig. 2). The OCT documented macular hypoplasia and thinning of her retina (Fig. 3).


GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

Han R, Wang X, Wang D, Wang L, Yuan Z, Ying M, Li N - Sci Rep (2015)

Photographs of OCT examination.Compared with a normal control (B), the patients (A) carrying with GPR143 gene mutations showed macular hypoplasiain OCT examination.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4498220&req=5

f3: Photographs of OCT examination.Compared with a normal control (B), the patients (A) carrying with GPR143 gene mutations showed macular hypoplasiain OCT examination.
Mentions: All the families (NYS-17, NYS-18, NYS-19, NYS-20, and NYS-21) were referred to Tianjin Eye Hospital for congenital nystagmus. We evaluated the clinical features for 9 patients and 5 female carriers in these five families (Table 1). The most common clinical features among the patients were nystagmus, impaired visual acuity, variable hypopigmentation in the fundus and macular hypoplasia detected by OCT. However, iris hypopigmentation with translucency was not evident. With the exception of the proband in the NYS-18 family, having a chin-down head position to compensate his vertical nystagmus, other probands in the NYS-17, NYS-19, NYS-20, and NYS-21 families showed a horizontal pendular nystagmus in the primary eye position without a compensative head position. In addition, exotropia was one of the clinical features in the NYS-17 family. The NYS-17 family was a large highly consanguineous family including 11 patients and 6 female carriers (Fig. 1). The individual III:1 was a 65-year-old male diagnosed with congenital nystagmus combined with exotropia. He married his cousin (individual III:2), a female carrier without nystagmus and exotropia. In his family, two of his daughters (individual IV:1 and individual IV:3) were affected patients with nystagmus and exotropia, and one of his daughters was a female carrier (individual IV:5) without nystagmus and exotropia. The individual IV:3 was the proband in the NYS-17 family and diagnosed with congenital nystagmus combined with exotropia. She developed nystagmus at the age of 3 to 4 months, and had horizontal pendular nystagmus and exotropia of 20° in the primary eye position with best corrected visual acuity of 0.1 in both her eyes. Photographs of her fundus showed hypopigmentation in the posterior of the fundus and allowed visualization of the choroidal vessels (Fig. 2). The OCT documented macular hypoplasia and thinning of her retina (Fig. 3).

Bottom Line: In this study, five Chinese families initially diagnosed as X-linked congenital nystagmus were recruited and patients underwent ophthalmological examinations.After direct sequencing of the FRMD7 and GPR143 genes, five mutations in GPR143 gene were detected in each of the five families, including a novel nonsense mutation of c.333G>A (p.W111X), two novel splicing mutations of c.360+1G>C and c.659-1G>A, a novel small deletion mutation of c.43_50dupGACGCAGC (p.L20PfsX25), and a previously reported missense mutation of c.703G>A (p.E235K).Our study further expands the GPR143 mutation spectrum and contributes to the study of GPR143 molecular pathogenesis.

View Article: PubMed Central - PubMed

Affiliation: 1] Tianjin Medical University, Tianjin, 300070, People's Republic of China [2] Molecular Genetic Department, Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin, 300020, People's Republic of China.

ABSTRACT
The ocular albinism type I (OA1) is clinically characterized by impaired visual acuity, nystagmus, iris hypopigmentation with translucency, albinotic fundus, and macular hypoplasia together with normally pigmented skin and hair. However, it is easily misdiagnosed as congenital idiopathic nystagmus in some Chinese patients with OA1 caused by the G-protein coupled receptor 143 (GPR143) gene mutations. Mutations in the FERM domain-containing 7 (FRMD7) gene are responsible for the X-linked congenital idiopathic nystagmus. In this study, five Chinese families initially diagnosed as X-linked congenital nystagmus were recruited and patients underwent ophthalmological examinations. After direct sequencing of the FRMD7 and GPR143 genes, five mutations in GPR143 gene were detected in each of the five families, including a novel nonsense mutation of c.333G>A (p.W111X), two novel splicing mutations of c.360+1G>C and c.659-1G>A, a novel small deletion mutation of c.43_50dupGACGCAGC (p.L20PfsX25), and a previously reported missense mutation of c.703G>A (p.E235K). Optical coherence tomography (OCT) examination showed foveal hypoplasia in all the affected patients with nystagmus. Our study further expands the GPR143 mutation spectrum and contributes to the study of GPR143 molecular pathogenesis. Molecular diagnosis and optical coherence tomography (OCT) are two useful tools for differential diagnosis.

No MeSH data available.


Related in: MedlinePlus