Incidence, Phenotypes, and Genotypes of Neonatal Diabetes: A 16-Year Experience. The Rare Genetic Etiologies of Neonatal Diabetes Are Common in Sudan

Table 2

Types of neonatal diabetes, clinical presentation, and genetic mutations.

Type of ND	Genetic mutation	Number of patients	Average age in days	Clinical features	Zygosity	Genetic description
TND	6q24	3	24	IUGR, FTT, Dehy, DKA	—	Maternal methylation defects paternal deletion
	INS	1	14	FTT, Deyh, DKA	Heterozygous	Variant of uncertain significance:
	NM_00207					c.107T >G, p.Val36Gly
	SLC2A2	1	45	Hepatomegaly, hypo, HPR, RTA	Homozygous	c.157C >T, p.Arg53
	NM00340
IPND	KCNJ11	4	73	FTT, Dehy, DKA	Heterozygous	c.1000G >C, p.Gly334Arg
	NM_000525					c.158G >A, p.Gly53Asp
						c.175G >A, p.Val59Met
						c.175G >A, p.Val59Met
	ABCC8	2	58	FTT, Dehy	Homozygous	c.3940C >A,p.Arg1314Ser
	NM_0012871 74				Heterozygous	c.2476C >T, p.Arg826Trp
	INS	3	12	FTT, Dehy, DKA	Heterozygous	c.94G >A, p. Gly32Ser
	NM_00207				Heterozygous	c.188-31G >A, p.?
					Homozygous	c.-331C >G, p.?
	GCK	2 Sibs	42	Hemiparesis, seizure	Homozygous	c.216_217dup, p.Asp73fs
	NM_000162
SND	EIF2AK3	7	42	SKD, LD	Homozygous	c.802_803dup, p.Pro269fs
	NM_004836					c.1912C >T, p.Arg638
						c.1739del, p.Asn581fs
						c.2967T >A, p.Tyr989
						c.3026C >T, p.Ser1009Phe
						c.1909C >T/p.Arg637
						c.1647 + 2T >A, p.?
	SLC2A2	2	53	Hepatomegaly, fasting hypo, HPR, RTA	Homozygous	c.157C >T, p.Arg53Ter
	NM00340					c.1171-2A >G, p.?
	SLC19A2	3 (2 sibs)	170	SNHL, anemia, CHD, DKA	Homozygous	c.327_334del, p. Ile109fs
	NM_006996					c.327_334del, p. Ile109fs
						c.2309del, p.Asn770fs
	ZNF808	3 (2 sibs)	53	Malabsorption, growth failure, DKA	Homozygous	p.Asn770Ilefs98
	NM_0013214 25
	NARS2	3	55	Seizure, HTN, sepsis, DKA	Homozygous	c.648C >G, p.Phe216Leu
	NM_024678
	APGAT2	2	90	Generalized subcutaneous tissue loss, muscle hypertrophy, xanthoma	Homozygous	c.589-2A >G, p.?
	NM_006412					c.524G >C p.Arg175Pro
	INSR	1	40	Dysmorphism, IUGR, acanthosis nigricans, multiple ovarian cyst	Homozygous	p.Ser323Leu
	NM_000208
	PTF1A	1	30	SKD, hepatomegaly, chronic diarrhea	Homozygous	Chr10:g.23508363A >G, p.?
	NM_178161
No mutation	—	11	80	FTT, Dehy	—	—

ND, neonatal diabetes; TND, transient neonatal diabetes; IPND, isolated permanent neonatal diabetes; SND, syndromic neonatal diabetes; IUGR, intrauterine growth retardation; FTT, failure to thrive; DKA, diabetic ketoacidosis; Dehy, dehydration; HPR, hypophosphatemic rickets; RTA, renal tubular acidosis; hypo, hypoglycemia; SKD, skeletal dysplasia; LD, liver disorder; SNHL, sensory neural hearing loss; HTN, hypertension; CHD, congenital heart disease.