Clinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances: A case report

Table 2 Summary of the clinical manifestations and genetic loci of previously reported patients with Kenny-Caffey syndrome type 2

	Year	Country	Fellow-up age	Sex	Inheritance patterns	Nucleotide change	Amino acid alteration	Ref.
1	2013	Switzerland	40 yr	F	De novo	c.1706G>A	p.R569H	[5]
2		India	17 yr	M	NA	c.1706G>A	p.R569H	[5]
3		Germany	10 yr	M	NA	c.1706G>A	p.R569H	[5]
4		Italy	6 mo	F	De novo	c.1706G>A	p.R569H	[5]
5		India	7 yr	M	NA	c.1531T>C	p.Y511H	[5]
6	2014	Japan	10 yr	F	De novo	c.1706G>A	p.R569H	[6]
7		Japan	16 yr	M	De novo	c.1706G>A	p.R569H	[6]
8		Japan	22 yr	F	De novo	c.1706G>A	p.R569H	[6]
9		Japan	38 yr	M	NA	c.1706G>A	p.R569H	[6]
10	2014	Canada	3 yr	F	AD	c.1706G>A	p.R569H	[7]
11		Canada	25 yr	F	NA	c.1706G>A	p.R569H	[7]
12	2014	America	NA	F	De novo	c.1706G>A	p.R569H	[8]
13	2017	Australia	6 yr	F	NA	c.1622C> A	p.S541Y	[9]
14	2019	China	10 yr	F	NA	c.1706G>A	p.R569H	[10]
15	2020	Brazil	18 yr	M	De novo	c.1706G>A	p.R569H	[11]
16	2020	China	23 yr	M	De novo	c.1621T>C	p.S541P	[12]
17		China	23 yr	M	De novo	c.1621T>C	p.S541P	[12]
18	2020	America	20 mo	M	De novo	c.968G>A	p.G323E	[13]
19	2020	Brazil	10 yr	F	De novo	c.1706G>A	p.R569H	[14]
20	2021	India	9 yr	F	NA	g.58920847G>A	p.R569H	[15]
21	2021	Turkey	NA	M	AR	c.976T>A	NA	[16]
						c.1714_1716del
22	2021	China	18 yr	F	De novo	c.1706G>A	p.R569H	Our patient
23	2023	Japan	56 yr	F	NA	c.1706G>A	p.R569H	[17]

F: Female; M: Male; NA: Not applicable; AR: Autosomal recessive; AD: Autosomal dominant.