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Molecular testing in holoprosencephaly
Author(s) -
Kruszka Paul,
Martinez Ariel F.,
Muenke Maximilian
Publication year - 2018
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31617
Subject(s) - holoprosencephaly , genetic testing , sanger sequencing , biology , bioinformatics , computational biology , medicine , dna sequencing , genetics , gene , pregnancy , fetus
Holoprosencephaly (HPE) is a structural brain anomaly characterized by failure of the forebrain to separate during early embryogenesis. Both genetic and environmental etiologies of HPE have been discovered over the last three decades. Traditionally, the genetic workup for HPE has been a karyotype, chromosomal microarray, and/or Sanger sequencing of select genes. The recent increased availability of next‐generation sequencing has changed the molecular diagnostic landscape for HPE, associating new genes with this disorder such as FGFR1 . We conducted a systematic review of the medical literature for the molecular testing of HPE for studies published in the last 20 years. We also queried known commercial diagnostic laboratories and used information on their websites to construct a list of available commercial testing. Our group released its first recommendations in 2010 and this update incorporates the technology shifts and gene discoveries over the last decade. These recommendations provide a guide for genetic diagnosis of HPE, which is paramount for patients and their families for prognosis, treatment, and genetic counseling.