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, 53 (12), 1018-21

A Family With Townes-Brocks Syndrome With Congenital Hypothyroidism and a Novel Mutation of the SALL1 Gene

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A Family With Townes-Brocks Syndrome With Congenital Hypothyroidism and a Novel Mutation of the SALL1 Gene

Won Ik Choi et al. Korean J Pediatr.

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.

Keywords: Congenital hypothyroidism; SALL1; Townes-Brocks syndrome.

Figures

Fig. 1
Fig. 1
The Townes-Brocks syndrome (TBS) patient shows dysplastic and low-set ear with preauricular tags.
Fig. 2
Fig. 2
The right thumb of the patient shows preaxial polydactyly with ulnar deviation.
Fig. 3
Fig. 3
The 2nd and 4th toes overlap the 3rd and 5th toe clinodactyly in the patient with Townes-Brocks syndrome (TBS).
Fig. 4
Fig. 4
Simple abdomen at birth shows dilation of the descending and rectosigmoid colon, but no gas is seen in the distal rectum.
Fig. 5
Fig. 5
Pedigree of the family shows vertical transmission of Townes-Brocks syndrome (TBS).
Fig. 6
Fig. 6
Mutation analysis of the SALL1 gene in the patient shows a single base pair deletion at nucleotide position 1470 (c.1470delG) in exon 2. The same type of mutation was found in his mother.

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Cited by 1 PubMed Central articles

  • Endocrine Abnormalities in Townes-Brocks Syndrome
    C Lawrence et al. Am J Med Genet A 161A (9), 2266-73. PMID 23894113. - Case Reports
    Townes-Brocks syndrome is a recognizable variable pattern of malformation caused by mutations to the SALL1 gene located on chromosome 16q12.1. Only three known cases of T …

References

    1. Aylsworth AS. Anus-hand-ear syndrome. In: Buyse ML, editor. Birth defects encyclopaedia. Dover: Blackwell Scientific Publications; 1990. p. 155.
    1. Cameron TH, Lachiewicz AM, Aylsworth AS. Townes-Brocks syndrome in two mentally retarded youngsters. Am J Med Genet. 1991;41:1–4. - PubMed
    1. Ishikiriyama S, Kudoh F, Shimojo N, Iwai J, Inoue T. Townes-Brocks syndrome associated with mental retardation. Am J Med Genet. 1996;61:191–192. - PubMed
    1. Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet. 1998;18:81–83. - PubMed
    1. Kohlhase J, Taschner PE, Burfeind P, Pasche B, Newman B, Blanck C, et al. Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. Am J Hum Genet. 1999;64:435–445. - PMC - PubMed
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