Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

doi:10.1016/j.ajhg.2015.01.010

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Article

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

American journal of human genetics - 5 Mar 2015

Iqbal Zafar, Willemsen Marjolein H, Papon Marie-Amélie, Musante Luciana, Benevento Marco, Hu Hao, Venselaar Hanka, Wissink-Lindhout Willemijn M, Vulto-van Silfhout Anneke T, Vissers Lisenka E L M, de Brouwer Arjan P M, Marouillat Sylviane, Wienker Thomas F, Ropers Hans Hilger, Kahrizi Kimia, Nadif Kasri Nael, Najmabadi Hossein, Laumonnier Frédéric, Kleefstra Tjitske, van Bokhoven Hans

Abstract excerpt

We report on Dutch and Iranian families with affected individuals who present with moderate to severe intellectual disability and additional phenotypes including progressive tremor, speech impairment, and behavioral problems in certain individuals. A combination of exome sequencing and homozygosity mapping revealed homozygous mutations c.484G>A (p.Gly162Arg) and c.1898C>G (p.Pro633Arg) in SLC6A17. SLC6A17 is...

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PMID: 25704603
DOI: 10.1016/j.ajhg.2015.01.010
PMCID: PMC4375531

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