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تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Syndromic forms of hyperinsulinism

Syndromic forms of hyperinsulinism
Syndrome Gene Locus Inheritance Features

Beckwith-Wiedemann[1]

MIM #130650
H19; IGF2; KCNQ1; CDKN1C 11p15 Complex – Can be autosomal dominant, contiguous gene duplication at 11p15, or genomic imprinting Macroglossia, abdominal wall defects, lateralized overgrowth, embryonal tumors

Kabuki[2]

MIM #147920;
MIM #300867
KMT2D; KDM6A

12q13

Xp.11
Dominant Characteristic facial features – Eversion of lower lateral eyelid, arched eyebrows, depressed nasal tip, and prominent ears; fetal finger pads; short stature; skeletal abnormalities; cardiac defects; intellectual disability

Sotos[3]

MIM #117550
NSD1 5q35 Dominant Prenatal and postnatal overgrowth, frontal bossing, intellectual disability
Turner[4] KDM6A? (in association with monosomy X) X Sporadic Short stature, premature ovarian failure, congenital heart defects, kidney abnormalities, autoimmune thyroiditis
Hyperinsulinism with hypopituitarism[5] FOXA2 20p11 Dominant Hypopituitarism, dysmorphic facial features, hypoplastic pituitary gland and stalk
Hyperinsulinism with polycystic kidneys[6] PMM2 16p13 Recessive* Polycystic kidney disease, liver cysts

Tyrosinemia type 1[7]

MIM #276700
FAH 15q25 Recessive Liver dysfunction, renal tubular dysfunction, rickets, growth failure

Usher syndrome type IC[8]

MIM #276904
ABCC8; KCNJ11 11p15 Recessive Sensorineural deafness, vestibular hypofunction, retinitis pigmentosa, enteropathy

Rubinstein-Taybi[9]

MIM #180849;
MIM# 613684
CREBBP; EP300

22q13

16p13
Dominant Distal limb abnormalities, short stature, intellectual disabilities
Congenital disorders of glycosylation

Phosphomannomutase 2 deficiency[10]

MIM #212065
PMM2 16p13 Recessive Failure to thrive, developmental delay, epilepsy, ataxia, hepatopathy

Mannosephosphate isomerase deficiency[11]

MIM #602579
MPI 15q24 Recessive Failure to thrive, protein-losing enteropathy, hepatopathy

Phosphoglucomutase 1 deficiency[12]

MIM #614921
PGM1 1p31 Recessive Cleft lip, bifid uvula, hepatopathy, short stature

* Promotor mutation (c.-167G>T) either homozygous or in trans with coding mutation.

¶ Contiguous gene deletion of 11p14-15, which includes part of ABCC8 and encompassing the Usher gene locus (USH1C).

References:
  1. Brioude F, Kalish JM, Mussa A, et al. Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol 2018; 14:229.
  2. Yap KL, Johnson AEK, Fischer D, et al. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med 2019; 21:233.
  3. Matsuo T, Ihara K, Ochiai M, et al. Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome. Am J Med Genet A 2013; 161a:34.
  4. Gibson CE, Boodhansingh KE, Li C, et al. Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency. Horm Res Paediatr 2018; 89:413.
  5. Giri D, Vignola ML, Gualtieri A, et al. Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities. Hum Mol Genet 2017; 26:4315.
  6. Flanagan SE, Kapoor RR, Mali G, et al. Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. Eur J Endocrinol 2010; 162:987.
  7. Baumann U, Preece MA, Green A, Kelly DA, McKiernan PJ. Hyperinsulinism in tyrosinaemia type I. J Inherit Metab Dis 2005; 28:131.
  8. Bitner-Glindzicz M, Lindley KJ, Rutland P, et al. A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. Nat Genet 2000; 26:56.
  9. Welters A, Meissner T, Grulich-Henn J, et al. Characterization of diabetes following pancreatic surgery in patients with congenital hyperinsulinism. Orphanet J Rare Dis 2018; 13:230.
  10. Shanti B, Silink M, Bhattacharya K, et al. Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency. J Inherit Metab Dis 2009; 32:S241.
  11. de Lonlay P, Cuer M, Vuillaumier-Barrot S, et al. Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose. J Pediatr 1999; 135:379.
  12. Tegtmeyer LC, Rust S, van Scherpenzeel M, et al. Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med 2014; 370:533.
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