New insights into the pathogenic variation landscape in pediatric gastroenterology diseases

Table 1 Genetic analysis of children with chronic diarrhea in the study of Alsarhan et al[3] and nine similar articles published between January 1, 2021, and December 31, 2025

Genes	Ethnics	Ref.
EPCAM	United Arab Emirates, Indian, Chinese	Alsarhan et al[3]; Yan et al[4]; Mantoo et al[6]; Wang et al[11]
SLC26A3	United Arab Emirates, Chinese	Alsarhan et al[3]; Yan et al[4]
MYO5B	United Arab Emirates, Chinese, Indian, Turk	Alsarhan et al[3]; Yan et al[4]; Mantoo et al[6]; Cakir et al[7]
SPINT2	United Arab Emirates	Alsarhan et al[3]
PAH	United Arab Emirates	Alsarhan et al[3]
NLRP12	United Arab Emirates	Alsarhan et al[3]
FOXP3	Chinese	Wu et al[5]
TTC37	Indian, Turk	Mantoo et al[6]; Cakir et al[7]
RFXANK	Turk	Cakir et al[7]
MEFV	Turk	Cakir et al[7]
PERCC1	Irish	Marek-Yagel et al[8]
SKIC2	Turk	Ozturk et al[9]
SKIC3	Turk, United Arab Emirates	Ozturk et al[9]; Alrammal et al[10]
DGAT1 deficiency	Pakistani	Mehmood et al[12]

Table 2 Genetic diagnostic yield in children with chronic diarrhea in the study of Alsarhan et al[3] and nine similar articles published between January 1, 2021, and December 31, 2025

Ref.	Alsarhan et al[3]	Yan et al[4]	Wu et al[5]	Mantoo et al[6]	Cakir et al[7]	Marek-Yagel et al[8]	Ozturk et al[9]	Alrammal et al[10]	Wang et al[11]	Mehmood et al[12]
Diagnostic yield (%)	73.3 (11/15)	100 (4/4)	100 (1/1)	75.0 (3/4)	87.5 (14/16)	100 (2/2)	100 (8/8)	100 (1/1)	100 (1/1)	100 (1/1)

Table 3 Genetic mutation of MYO5B in children with chronic diarrhea of different ethnic groups

	UAE[3]	Chinese[4]	Indian[6]	Turk[7]
MYO5B	Homozygous c.1966C>T (p.Arg656Cys1), homozygous c.82del p.(Thr28Profs47) (frameshift mutation2)	Heterozygous c.1306G>T (p.Val436Phe) plus heterozygous c.3190C>T (p.Arg1064) (nonsense mutation3)	Heterozygous c.1952C>G (p.Thr651Arg4)	Homozygous c.2014A>T (p.Lys672, nonsense mutation5), homozygous c.1323-2A>G (canonical splice-site destroyed mutation5)

¹Received a diagnosis of tufting enteropathy.

²Had microvillous inclusion disease (a life-threatening condition).

³Had severe symptoms (stools were watery and evacuated more than 10 times per day).

⁴Microvillous inclusion disease (variant of uncertain significance).

⁵Microvillous inclusion disease.

Table 4 Genetic analysis of patients with pancreatitis in the study of Alsarhan et al[3] and six similar articles published between January 1, 2021, and December 31, 2025

Genes	PRSS1	CTRC	CFTR	SPINK1	Chymotrypsin C	Cathepsin B	CaSR
Ethnics	United Arab Emirates1, Indians2, Italians3	United Arab Emirates4	Japanese5, Americans6, Italians7	Indians8, Italians9, Brazilians10	Indians11	Indians12	Italians13
Ref.	Alsarhan et al[3]; Prakash et al[15]; Destro et al[18]	Alsarhan et al[3]	Fujita et al[13]; Son et al[14]; Bontempo et al[16]	Prakash et al[15]; Bontempo et al[16]; Solis-Pazmino et al[17]	Prakash et al[15]	Prakash et al[15]	Bontempo et al[16]

¹p.Arg122His.

²p.Arg122His.

³p.Asn29Ile.

⁴p.Lys247-Arg254del.

⁵Three heterozygous mutations (p.Thr1220Ile, p.Arg1453Trp, and p.Val470Met).

⁶Heterozygous mutation (p.Asn1303 Lys).

⁷p.Leu997Phe.

⁸p.Asn34Ser.

⁹p.Ile73Phe.

¹⁰p.Asn34Ser.

¹¹p.Ala16Val.

¹²p.Asp22Gly.

¹³p.Phe790Ser.

Table 5 Genetic diagnostic yield for patients with pancreatitis in the study of Alsarhan et al[3] and six similar articles published between January 1, 2021, and December 31, 2025

Ref.	Alsarhan et al[3]	Fujita et al[13]	Son et al[14]	Prakash et al[15]	Bontempo et al[16]	Solis-Pazmino et al[17]	Destro et al[18]
Diagnostic yield (%)	50.0 (2/4)	100 (1/1)	100 (1/1)	100 (1/1)	100 (1/1)	100 (1/1)	100 (1/1)