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Zpráva o onemocněních · Neurological

Lamb-Shaffer Syndrome

A rare neurodevelopmental disorder causing developmental and speech delay and intellectual disability, often with behavioural differences, eye problems and subtle facial features. It results from loss of one working copy of the SOX5 gene on chromosome 12.

Zpráva o onemocněních hledá vzácné varianty, o nichž je známo, že způsobují onemocnění, na něž se zpráva zaměřuje.

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Onemocnění, které analyzujeme

Autozomálně dominantní

A disorder caused by loss of one working copy of SOX5, through a 12p12 deletion removing all or part of the gene or a sequence variant within it. Most cases arise de novo.

Příznaky a projevy

Developmental delay with prominent speech and language delay, and mild to moderate intellectual disability in most. Behavioural differences, including autism and hyperactivity, are common, as are low muscle tone, strabismus and mild facial differences. Less often there is optic atrophy, scoliosis, short stature or seizures.

Co se diagnózou změní

Developmental, speech and educational support, with eye, spine and behavioural assessment; seizures, when they occur, usually respond well to treatment. Most cases arise de novo, but a parent can carry the change, sometimes in only some of their cells, so genetic counselling and parental testing guide recurrence risk even when a variant appears new.

Analyzované geny

Známé také jako

Lamb-Shaffer syndrome; LAMSHF; LAMSHF

MONDO:0014778OMIM 616803Orphanet 530983MedGen 903542Zdroje: [2][3][4][5][6]

Omezení

  • About half the reported causes of Lamb-Shaffer syndrome are copy number variants, mostly 12p12 deletions removing all or part of SOX5. These are not detected by small-variant analysis, so only SOX5 sequence variants are assessed here and a negative result does not rule out the condition.

Reference

  1. Tenorio-Castano J et al., 2023. Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency. Clinical Genetics
  2. 2022. SOX5 and Lamb-Shaffer syndrome: gene-disease validity (Definitive, autosomal dominant). ClinGen Intellectual Disability and Autism Gene Curation Expert Panel
  3. Lamb AN et al., 2012. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Human Mutation
  4. Nesbitt A et al., 2015. Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders. American Journal of Medical Genetics Part A
  5. Zawerton A et al., 2020. Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genetics in Medicine
  6. Edgerley K et al., 2023. SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum. American Journal of Medical Genetics Part A

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