A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes.

Vlckova, Marketa; Simandlova, Martina; Zimmermann, Pavel; Stranecky, Viktor; Hartmannova, Hana; Hodanova, Katerina; Havlovicova, Marketa; Hancarova, Miroslava; Kmoch, Stanislav; Sedlacek, Zdenek

Vlckova, Marketa; Simandlova, Martina; Zimmermann, Pavel; Stranecky, Viktor; Hartmannova, Hana; Hodanova, Katerina; Havlovicova, Marketa; Hancarova, Miroslava; Kmoch, Stanislav; Sedlacek, Zdenek.

Affiliation

Vlckova M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic. Electronic address: marketa.vlckova@lfmotol.cuni.cz.
Simandlova M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Zimmermann P; Department of Statistics and Probability, Faculty of Informatics and Statistics, University of Economics, Prague, Czech Republic.
Stranecky V; Institute of Inherited Metabolic Disorders, Charles University 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Hartmannova H; Institute of Inherited Metabolic Disorders, Charles University 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Hodanova K; Institute of Inherited Metabolic Disorders, Charles University 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Havlovicova M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Hancarova M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Kmoch S; Institute of Inherited Metabolic Disorders, Charles University 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic.
Sedlacek Z; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

Eur J Med Genet ; 58(10): 550-5, 2015 Oct.

Article in En | MEDLINE | ID: mdl-26370006

Subject(s)

Blepharophimosis/genetics; Congenital Hypothyroidism/genetics; Craniofacial Abnormalities/genetics; Exons; Heart Defects, Congenital/genetics; Histone Acetyltransferases/genetics; Intellectual Disability/genetics; Joint Instability/genetics; Kidney/abnormalities; Mutation; Patella/abnormalities; Psychomotor Disorders/genetics; Scrotum/abnormalities; Urogenital Abnormalities/genetics; Base Sequence; Blepharophimosis/diagnosis; Child; Congenital Hypothyroidism/diagnosis; Craniofacial Abnormalities/diagnosis; Facies; Female; Heart Defects, Congenital/diagnosis; Humans; Intellectual Disability/diagnosis; Joint Instability/diagnosis; Molecular Sequence Data; Phenotype; Psychomotor Disorders/diagnosis; Urogenital Abnormalities/diagnosis

Key words

Genitopatellar syndrome; Genotype-phenotype correlation; KAT6B; Say-Barber-Biesecker-Young-Simpson syndrome

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Patella / Psychomotor Disorders / Scrotum / Urogenital Abnormalities / Exons / Blepharophimosis / Craniofacial Abnormalities / Congenital Hypothyroidism / Histone Acetyltransferases / Heart Defects, Congenital Type of study: Diagnostic_studies Limits: Child / Female / Humans Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2015 Document type: Article

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