Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

Nadirah Damseh; Alexandre Simonin; Chaim Jalas; Joseph A Picoraro; Avraham Shaag; Megan T Cho; Barak Yaacov; Julie Neidich; Motee Al-Ashhab; Jane Juusola; Sherri Bale; Aida Telegrafi; Kyle Retterer; John G Pappas; Ellen Moran; Joshua Cappell; Kwame Anyane Yeboa; Bassam Abu-Libdeh; Matthias A Hediger; Wendy K Chung; Orly Elpeleg; Simon Edvardson

doi:10.1136/jmedgenet-2015-103104

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Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

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Nadirah Damseh Department of Pediatrics, Al-Makassed Islamic Hospital, Jerusalem, Israel PubMed articles Google scholar articles
Alexandre Simonin NCCR TransCure, Institute of Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland PubMed articles Google scholar articles
Chaim Jalas Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, New York, USA PubMed articles Google scholar articles
Joseph A Picoraro Department of Pediatrics, Columbia University Medical Center, New York, New York, USA PubMed articles Google scholar articles
Avraham Shaag Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel PubMed articles Google scholar articles
Megan T Cho Department of Pediatrics, Columbia University Medical Center, New York, New York, USA GeneDx, Gaithersburg, Maryland, USA PubMed articles Google scholar articles
Barak Yaacov Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel PubMed articles Google scholar articles
Julie Neidich GeneDx, Gaithersburg, Maryland, USA PubMed articles Google scholar articles
Motee Al-Ashhab Department of Pediatrics, Al-Makassed Islamic Hospital, Jerusalem, Israel PubMed articles Google scholar articles
Jane Juusola GeneDx, Gaithersburg, Maryland, USA PubMed articles Google scholar articles
Sherri Bale GeneDx, Gaithersburg, Maryland, USA PubMed articles Google scholar articles
Aida Telegrafi GeneDx, Gaithersburg, Maryland, USA PubMed articles Google scholar articles
Kyle Retterer GeneDx, Gaithersburg, Maryland, USA PubMed articles Google scholar articles
John G Pappas Department of Pediatrics, New York University, New York, New York, USA PubMed articles Google scholar articles
Ellen Moran Department of Pediatrics, New York University, New York, New York, USA PubMed articles Google scholar articles
Joshua Cappell Department of Neurology, Columbia University Medical Center, New York, New York, USA PubMed articles Google scholar articles
Kwame Anyane Yeboa Department of Pediatrics, Columbia University Medical Center, New York, New York, USA PubMed articles Google scholar articles
Bassam Abu-Libdeh Department of Pediatrics, Al-Makassed Islamic Hospital, Jerusalem, Israel PubMed articles Google scholar articles
Matthias A Hediger NCCR TransCure, Institute of Biochemistry and Molecular Medicine, University of Bern, Bern, Switzerland PubMed articles Google scholar articles
Wendy K Chung Department of Pediatrics, Columbia University Medical Center, New York, New York, USA Department of Medicine, Columbia University Medical Center, New York, New York, USA PubMed articles Google scholar articles
Orly Elpeleg Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel PubMed articles Google scholar articles
Simon Edvardson Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel PubMed articles Google scholar articles

Correspondence to Professor Orly Elpeleg, Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Elpeleg{at}Hadassah.org.il and Wendy Chung, Department of Pediatrics, Columbia University Medical Center, New York, New York, USA; wkc15{at}cumc.columbia.edu

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Citation

Damseh N, Simonin A, Jalas C, et al

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

Journal of Medical Genetics 2015;52:541-547.

Publication history

Received March 5, 2015
Revised May 8, 2015
Accepted May 11, 2015
First published June 3, 2015.

Online issue publication

April 27, 2016

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