Pitt-Hopkins syndrome

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Pitt-Hopkins syndrome
Classification and external resources
OMIM	610954

Pitt-Hopkins syndrome is a genetic disorder characterized by mental retardation, a wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea.^[1] It is associated with an abnormality within chromosome 18: specifically, it is caused by an insufficient expression of the TCF4 gene.^[2]

Professor Phillip Beales, of the Institute of Child Health, has speculated that Peter the Wild Boy suffered from Pitt-Hopkins Syndrome.^[3]

References

^ Zweier C, Peippo MM, Hoyer J, et al. (May 2007). "Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)". American Journal of Human Genetics 80 (5): 994–1001. doi:10.1086/515583. PMC 1852727. PMID 17436255. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)60956-2.
^ "PITT-HOPKINS SYNDROME; PTHS". National Center for Biotechnology Information. http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=610954. Retrieved 2009-12-08.
^ Megan Lane (8 August 2011 Last updated at 01:15). "Who was Peter the Wild Boy?". BBC News Magazine. BBC. http://www.bbc.co.uk/news/magazine-14215171. Retrieved 2011-08-09.

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v t e Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies

(1) Basic domains	1.2: Feingold syndrome · Saethre-Chotzen syndrome 1.3: Tietz syndrome

(2) Zinc finger DNA-binding domains	2.1 (Intracellular receptor): Thyroid hormone resistance · Androgen insensitivity syndrome (PAIS, MAIS, CAIS) · Kennedy's disease · PHA1AD pseudohypoaldosteronism · Estrogen insensitivity syndrome · X-linked adrenal hypoplasia congenita · MODY 1 · Familial partial lipodystrophy 3 · SF1 XY gonadal dysgenesis 2.2: Barakat syndrome · Tricho–rhino–phalangeal syndrome 2.3: Greig cephalopolysyndactyly syndrome/Pallister-Hall syndrome · Denys–Drash syndrome · Duane-radial ray syndrome · MODY 7 · MRX 89 · Townes–Brocks syndrome · Acrocallosal syndrome · Myotonic dystrophy 2 2.5: Autoimmune polyendocrine syndrome type 1

(3) Helix-turn-helix domains	3.1: ARX (Ohtahara syndrome, Lissencephaly X2) · HLXB9 (Currarino syndrome) · HOXD13 (SPD1 Synpolydactyly) · IPF1 (MODY 4) · LMX1B (Nail–patella syndrome) · MSX1 (Tooth and nail syndrome, OFC5) · PITX2 (Axenfeld syndrome 1) · POU4F3 (DFNA15) · POU3F4 (DFNX2) · ZEB1 (Posterior polymorphous corneal dystrophy 3, Fuchs' dystrophy 3) · ZEB2 (Mowat-Wilson syndrome) 3.2: PAX2 (Papillorenal syndrome) · PAX3 (Waardenburg syndrome 1&3) · PAX4 (MODY 9) · PAX6 (Gillespie syndrome, Coloboma of optic nerve) · PAX8 (Congenital hypothyroidism 2) · PAX9 (STHAG3) 3.3: FOXC1 (Axenfeld syndrome 3, Iridogoniodysgenesis, dominant type) · FOXC2 (Lymphedema–distichiasis syndrome) · FOXE1 (Bamforth–Lazarus syndrome) · FOXE3 (Anterior segment mesenchymal dysgenesis) · FOXF1 (ACD/MPV) · FOXI1 (Enlarged vestibular aqueduct) · FOXL2 (Premature ovarian failure 3) · FOXP3 (IPEX) 3.5: IRF6 (Van der Woude syndrome, Popliteal pterygium syndrome)

(4) β-Scaffold factors with minor groove contacts	4.2: Hyperimmunoglobulin E syndrome 4.3: Holt-Oram syndrome · Li-Fraumeni syndrome · Ulnar–mammary syndrome 4.7: Campomelic dysplasia · MODY 3 · MODY 5 · SF1 (SRY XY gonadal dysgenesis, Premature ovarian failure 7) · SOX10 (Waardenburg syndrome 4c, Yemenite deaf-blind hypopigmentation syndrome) 4.11: Cleidocranial dysostosis

(0) Other transcription factors	0.6: Kabuki syndrome

Ungrouped	TCF4 (Pitt-Hopkins syndrome) · ZFP57 (TNDM1) · TP63 (Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8)

Transcription coregulators	coactivator: CREBBP (Rubinstein–Taybi syndrome) corepressor: HR (Atrichia with papular lesions)

see also transcription factors B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

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Pitt-Hopkins syndrome

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