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Dwarfism, intellectual disability, and eye abnormality

MedGen UID:
208664
•Concept ID:
C0796076
•
Disease or Syndrome
Synonyms: Dwarfism, mental retardation, and eye abnormality; Mollica syndrome; Mollica-Pavone-Antener syndrome
 
Monarch Initiative: MONDO:0009128
OMIM®: 223540

Definition

Delayed growth and mental development with ocular disorders. [from MCA/MR]

Recent clinical studies

Etiology

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM Jr, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA
Mol Genet Genomic Med 2021 Oct;9(10):e1809. Epub 2021 Sep 14 doi: 10.1002/mgg3.1809. PMID: 34519438Free PMC Article
Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.
Brea-Fernández A, Dacruz D, Eirís J, Barros F, Carracedo Á
Am J Med Genet A 2019 Feb;179(2):290-294. Epub 2018 Dec 20 doi: 10.1002/ajmg.a.60689. PMID: 30569622
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 M, Simandlova M, Zimmermann P, Stranecky V, Hartmannova H, Hodanova K, Havlovicova M, Hancarova M, Kmoch S, Sedlacek Z
Eur J Med Genet 2015 Oct;58(10):550-5. Epub 2015 Sep 11 doi: 10.1016/j.ejmg.2015.09.004. PMID: 26370006
Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J
Eur J Hum Genet 2015 Sep;23(9):1165-70. Epub 2014 Nov 26 doi: 10.1038/ejhg.2014.248. PMID: 25424711Free PMC Article
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.
Szakszon K, Salpietro C, Kakar N, Knegt AC, Oláh É, Dallapiccola B, Borck G
Am J Med Genet A 2013 Apr;161A(4):884-8. Epub 2013 Feb 22 doi: 10.1002/ajmg.a.35848. PMID: 23436491

Diagnosis

Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice.
Bergamasco MI, Vanyai HK, Garnham AL, Geoghegan ND, Vogel AP, Eccles S, Rogers KL, Smyth GK, Blewitt ME, Hannan AJ, Thomas T, Voss AK
J Clin Invest 2024 Apr 1;134(7) doi: 10.1172/JCI167672. PMID: 38557491Free PMC Article
Associated anomalies in cases with achondroplasia.
Stoll C, Alembik Y, Dott B, Roth MP
Eur J Med Genet 2022 Nov;65(11):104612. Epub 2022 Sep 20 doi: 10.1016/j.ejmg.2022.104612. PMID: 36150686
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?
Lonardo F, Lonardo MS, Acquaviva F, Della Monica M, Scarano F, Scarano G
Clin Genet 2019 Feb;95(2):253-261. Epub 2018 Jan 25 doi: 10.1111/cge.13127. PMID: 28857140
Autism spectrum disorder in Say-Barber-Biesecker-Young-Simpson syndrome.
Merritt J, Hart JC, LeGrow TL
BMJ Case Rep 2017 Jul 14;2017 doi: 10.1136/bcr-2017-219930. PMID: 28710305Free PMC Article
Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J
Eur J Hum Genet 2015 Sep;23(9):1165-70. Epub 2014 Nov 26 doi: 10.1038/ejhg.2014.248. PMID: 25424711Free PMC Article

Therapy

Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice.
Bergamasco MI, Vanyai HK, Garnham AL, Geoghegan ND, Vogel AP, Eccles S, Rogers KL, Smyth GK, Blewitt ME, Hannan AJ, Thomas T, Voss AK
J Clin Invest 2024 Apr 1;134(7) doi: 10.1172/JCI167672. PMID: 38557491Free PMC Article

Prognosis

A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.
Marangi G, Di Giacomo MC, Lattante S, Orteschi D, Patrizi S, Doronzio PN, Riviello FN, Vaisfeld A, Frangella S, Zollino M
Am J Med Genet A 2018 Feb;176(2):455-459. Epub 2017 Dec 11 doi: 10.1002/ajmg.a.38571. PMID: 29226580
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.
Yilmaz R, Beleza-Meireles A, Price S, Oliveira R, Kubisch C, Clayton-Smith J, Szakszon K, Borck G
Am J Med Genet A 2015 Dec;167A(12):3006-10. Epub 2015 Sep 3 doi: 10.1002/ajmg.a.37343. PMID: 26334766
Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J
Eur J Hum Genet 2015 Sep;23(9):1165-70. Epub 2014 Nov 26 doi: 10.1038/ejhg.2014.248. PMID: 25424711Free PMC Article

Clinical prediction guides

Associated anomalies in cases with achondroplasia.
Stoll C, Alembik Y, Dott B, Roth MP
Eur J Med Genet 2022 Nov;65(11):104612. Epub 2022 Sep 20 doi: 10.1016/j.ejmg.2022.104612. PMID: 36150686
Primary Dwarfism, Microcephaly, and Chorioretinopathy due to a PLK4 Mutation in Two Siblings.
Martín-Rivada Á, Pozo-Román J, Güemes M, Ortiz-Cabrera NV, Pérez-Jurado LA, Argente J
Horm Res Paediatr 2020;93(9-10):567-572. Epub 2021 Mar 23 doi: 10.1159/000514280. PMID: 33756487
A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.
Marangi G, Di Giacomo MC, Lattante S, Orteschi D, Patrizi S, Doronzio PN, Riviello FN, Vaisfeld A, Frangella S, Zollino M
Am J Med Genet A 2018 Feb;176(2):455-459. Epub 2017 Dec 11 doi: 10.1002/ajmg.a.38571. PMID: 29226580
Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J
Eur J Hum Genet 2015 Sep;23(9):1165-70. Epub 2014 Nov 26 doi: 10.1038/ejhg.2014.248. PMID: 25424711Free PMC Article
Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.
O'Driscoll M, Dobyns WB, van Hagen JM, Jeggo PA
Am J Hum Genet 2007 Jul;81(1):77-86. Epub 2007 May 17 doi: 10.1086/518696. PMID: 17564965Free PMC Article

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