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A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene.

Choi WI, Kim JH, Yoo HW, Oh SH - Korean J Pediatr (2010)

Bottom Line: Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene.Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome.We report the case of a family whose members were diagnosed with TBS with congenital hypothyroidism and had a novel SALL1 gene mutation.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Hanyang University School of Medicine, Seoul, Korea.

ABSTRACT
Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis of these syndromes. We report the case of a family whose members were diagnosed with TBS with congenital hypothyroidism and had a novel SALL1 gene mutation.

No MeSH data available.


Related in: MedlinePlus

Pedigree of the family shows vertical transmission of Townes-Brocks syndrome (TBS).
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Figure 5: Pedigree of the family shows vertical transmission of Townes-Brocks syndrome (TBS).

Mentions: Clinical findings of the patient and pertinent family history suggested the possibility of TBS (Fig. 5). Mutation analysis of exons 1, 2, and 3 of SALL1 gene in the 16q12.1 was performed on the patient and his mother, which showed a heterozygous single base pair deletion at nucleotide position 1470 (c.1470delG) in exon 2 (Fig. 6) which represents a novel SALL1 mutation. This deletion is predicted to cause a frameshift mutation, leading to a truncated SALL1 protein. The parents were against mutation analysis for TBS on their 4-year-old daughter.


A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene.

Choi WI, Kim JH, Yoo HW, Oh SH - Korean J Pediatr (2010)

Pedigree of the family shows vertical transmission of Townes-Brocks syndrome (TBS).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3021728&req=5

Figure 5: Pedigree of the family shows vertical transmission of Townes-Brocks syndrome (TBS).
Mentions: Clinical findings of the patient and pertinent family history suggested the possibility of TBS (Fig. 5). Mutation analysis of exons 1, 2, and 3 of SALL1 gene in the 16q12.1 was performed on the patient and his mother, which showed a heterozygous single base pair deletion at nucleotide position 1470 (c.1470delG) in exon 2 (Fig. 6) which represents a novel SALL1 mutation. This deletion is predicted to cause a frameshift mutation, leading to a truncated SALL1 protein. The parents were against mutation analysis for TBS on their 4-year-old daughter.

Bottom Line: Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene.Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome.We report the case of a family whose members were diagnosed with TBS with congenital hypothyroidism and had a novel SALL1 gene mutation.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, Hanyang University School of Medicine, Seoul, Korea.

ABSTRACT
Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred syndrome, Baller-Gerold syndrome, and cat eye syndrome. Structural vertebral abnormalities, hypoplasia of the thumb, and radial bone abnormalities, which are not usually associated with TBS, help in the differential diagnosis of these syndromes. We report the case of a family whose members were diagnosed with TBS with congenital hypothyroidism and had a novel SALL1 gene mutation.

No MeSH data available.


Related in: MedlinePlus