The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B

Markus Zweier; Maarit M Peippo; Minna Pöyhönen; Helena Kääriäinen; Anaïs Begemann; Pascal Joset; Beatrice Oneda; Anita Rauch

doi:10.1002/ajmg.a.38143

The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B

Am J Med Genet A. 2017 May;173(5):1440-1443. doi: 10.1002/ajmg.a.38143. Epub 2017 Mar 21.

Authors

Markus Zweier¹, Maarit M Peippo², Minna Pöyhönen³, Helena Kääriäinen⁴, Anaïs Begemann^{1

5}, Pascal Joset¹, Beatrice Oneda¹, Anita Rauch^{1

5

6

7}

Affiliations

¹ Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.
² Mehiläinen Clinic, Vantaa, Finland.
³ Department of Clinical Genetics, Helsinki University Central Hospital and Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
⁴ National Institute for Health and Welfare, Helsinki, Finland.
⁵ Radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.
⁶ Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland.
⁷ Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich, Switzerland.

No abstract available

Keywords: ARID1B; Coffin-Siris syndrome; HHID; abnormal corpus callosum; hyperkeratosis; hypertrichosis; intellectual disability; minor anomalies.

Publication types

Case Reports
Letter

MeSH terms

Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / genetics*
Adolescent
Adult
Agenesis of Corpus Callosum / diagnosis
Agenesis of Corpus Callosum / genetics*
Child
DNA-Binding Proteins / genetics*
Exome Sequencing
Facies
Female
Genetic Association Studies
Humans
Hyperkeratosis, Epidermolytic / diagnosis
Hyperkeratosis, Epidermolytic / genetics*
Hypertrichosis / diagnosis
Hypertrichosis / genetics*
Intellectual Disability / diagnosis
Intellectual Disability / genetics*
Mutation*
Phenotype
Transcription Factors / genetics*
Young Adult

Substances

ARID1B protein, human
DNA-Binding Proteins
Transcription Factors