{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:57:49Z","timestamp":1778633869916,"version":"3.51.4"},"reference-count":14,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2016,6,2]],"date-time":"2016-06-02T00:00:00Z","timestamp":1464825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mutations in <jats:italic>CRIPT<\/jats:italic> encoding cysteine\u2010rich PDZ domain\u2010binding protein are rare, and to date have been reported in only two patients with autosomal recessive primordial dwarfism and distinctive facies. Here, we describe a female with biallelic mutations in <jats:italic>CRIPT<\/jats:italic> presenting with postnatal growth retardation, global developmental delay, and dysmorphic features including frontal bossing, high forehead, and sparse hair and eyebrows. Additional clinical features included high myopia, admixed hyper\u2010 and hypopigmented macules primarily on the face, arms, and legs, and syndactyly of 4\u20135 toes bilaterally. Using whole exome sequencing (WES) and chromosomal microarray analysis (CMA), we detected a c.8G&gt;A (p.C3Y) missense variant in exon 1 of the <jats:italic>CRIPT<\/jats:italic> gene inherited from the mother and a 1,331\u2009bp deletion encompassing exon 1, inherited from the father. The c.8G&gt;A (p.C3Y) missense variant in <jats:italic>CRIPT<\/jats:italic> was apparently homozygous in the proband due to the exon 1 deletion. Our findings illustrate the clinical utility of combining WES with copy number variant (CNV) analysis to provide a molecular diagnosis to patients with rare Mendelian disorders. Our findings also illustrate the clinical spectrum of <jats:italic>CRIPT<\/jats:italic> related mutations. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37780","type":"journal-article","created":{"date-parts":[[2016,6,2]],"date-time":"2016-06-02T06:09:33Z","timestamp":1464847773000},"page":"2206-2211","source":"Crossref","is-referenced-by-count":17,"title":["<i>CRIPT<\/i> exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities"],"prefix":"10.1002","volume":"170","author":[{"given":"Magalie S.","family":"Leduc","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiyv","family":"Niu","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weimin","family":"Bi","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"},{"name":"Baylor Miraca Genetics Laboratories Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenmiao","family":"Zhu","sequence":"additional","affiliation":[{"name":"Baylor Miraca Genetics Laboratories Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irene","family":"Miloslavskaya","sequence":"additional","affiliation":[{"name":"Baylor Miraca Genetics Laboratories Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Theodore","family":"Chiang","sequence":"additional","affiliation":[{"name":"Human Genome Sequencing Center Baylor College of Medicine Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haley","family":"Streff","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John R.","family":"Seavitt","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen A.","family":"Murray","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory Bar Harbor Maine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Eng","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"},{"name":"Baylor Miraca Genetics Laboratories Houston 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