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Article

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.

American journal of medical genetics. Part A - 1 Sept 2017

Yıldız Bölükbaşı Esra, Afzal Muhammad, Mumtaz Sara, Ahmad Nafees, Malik Sajid, Tolun Aslıhan

Abstract excerpt

We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability, developmental delay, limb and gait ataxia, behavioral and speech problems, and tremor. By linkage mapping and exome sequencing we identified novel homozygous splicing variant c.6375-1G>C in SPTBN2. To date, only two other SPTBN2 mutations with recessive pattern of inheritance causing SCAR14...

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Identifiers

PMID: 28636205
DOI: 10.1002/ajmg.a.38332

Genes

SPTBN2

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