Lamb-Shaffer syndrome

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Lamb-Shaffer syndrome is a rare autosomal dominant condition.[1] Less than 40 cases have been reported by 2018.

Signs and symptoms[edit | edit source]

Clinical features include[2]

  • Global developmental delay
  • Significant speech delay
  • Hypotonia
  • Micrognathia
  • Scoliosis
  • Defects in motor function both fine and gross
  • Optic atrophy
  • Ocular motor apraxia
  • Strabismus
  • Frontal bossing
  • Ear abnormalities
  • Low nasal bridge
  • Epicanthal folds
  • Midline tongue groove

Genetics[edit | edit source]

This condition is caused by mutations in the SRY-related HMG-box (SOX5) gene.[3] This gene encodes a protein in the family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate.

The gene is located on the short arm of chromosome 12 (12p12).

Parthenogenesis[edit | edit source]

How this mutation causes the clinical picture is not currently clear.

Diagnosis[edit | edit source]

The diagnosis may be suspected on the basis of the constellation of clinical features. It is made by sequencing the SOX5 gene

Treatment[edit | edit source]

There is currently no curative treatment for this condition.

Supportive management is all that is currently available.

Epidemiology[edit | edit source]

This is a rare condition with a prevalence of < 1/106. The total number of cases reported to date is <40.

History[edit | edit source]

This condition was first described by Lamb et al in 2012[4]

References[edit | edit source]

  1. Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S., Keelean-Fuller D, Fan Z, Pouncey J, Stevens, C., Mackay-Loder L, Terespolsky D, and 31 others. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat 33: 728-740
  2. Nesbitt A, Bhoj EJ, McDonald Gibson K, Yu Z, Denenberg E, Sarmady M, Tischler T, Cao K, Dubbs H, Zackai EH, Santani A (2015) Exome sequencing expands the mechanism of SOX5-associated intellectual disability: a case presentation with review of SOX-related disorders. Am J Med Genet 167A: 2548-2554
  3. Lee RWY, Bodurtha J, Cohen J, Fatemi A, Batista D (2013) Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features. Pediat Neurol 48: 317-320
  4. Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S., Keelean-Fuller D, Fan Z, Pouncey J, Stevens, C., Mackay-Loder L, Terespolsky D, and 31 others. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat 33: 728-740
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Contributors: Prab R. Tumpati, MD