Identification of a homozygous missense mutation in LRP2 and a hemizygous missense mutation in TSPYL2 in a family with mild intellectual disability

Psychiatric Genetics

Volumn 26, Issue 2, 2016, Pages 66-73

  Vasli, Nasim ^a   Ahmed, Iltaf ^a   Mittal, Kirti ^a   Ohadi, Mehrnaz ^a   Mikhailov, Anna ^a   Rafiq, Muhammad A ^a   Bhatti, Attya ^h   Carter, Melissa T ^b   Andrade, Danielle M ^c,f   Ayub, Muhammad ^g   Vincent, John B ^a,d,e   John, Peter ^h  

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c Cambridge Health Alliance   (United States)

^d Department of Psychiatry ^*  (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

^f UNIVERSITY HEALTH NETWORK   (Canada)

^g QUEEN S UNIVERSITY   (Canada)

^h NATIONAL UNIVERSITY OF SCIENCES AND TECHNOLOGY   (Pakistan)

Author keywords

Autism; Donnai Barrow syndrome; Homozygosity mapping; Low density lipoprotein receptor related protein 2; Next generation sequencing; Nonsyndromic autosomal recessive intellectual disability; Testis specific protein Y encoded like 2

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; MEGALIN; PROTEIN; TESTIS SPECIFIC PROTEIN Y ENCODED LIKE 2 PROTEIN; UNCLASSIFIED DRUG; LRP2 PROTEIN, HUMAN; NUCLEAR PROTEIN; TSPYL2 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; AUTISM; CHROMOSOME; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; FAMILY; FEMALE; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOME; GENOTYPE; HEMIZYGOSITY; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MISSENSE MUTATION; PAKISTANI; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STICKLER SYNDROME; ASIAN CONTINENTAL ANCESTRY GROUP; GENETIC LINKAGE; GENETICS; HOMOZYGOTE; PAKISTAN; PEDIGREE; RECESSIVE GENE;

ASIAN CONTINENTAL ANCESTRY GROUP; EXOME; FEMALE; GENES, RECESSIVE; GENETIC LINKAGE; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN-2; MALE; MUTATION, MISSENSE; NUCLEAR PROTEINS; PAKISTAN; PEDIGREE;

EID: 84960123840     PISSN: 09558829     EISSN: 14735873     Source Type: Journal    
DOI: 10.1097/YPG.0000000000000114     Document Type: Article

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