Table 1.

Key clinical features of KID patients with GJB2 p.A88V and p.G45E variants. Summary of cases by organ system. For the two cases in grey, we relied on the published case reports, as we were not able to communicate with the primary dermatologist. Asterisked cases are from one family.

Case (citation if previously reported)	Genotype	Gender	Gestational age at birth (weeks + days)	Respiratory	Cardiovascular	Central Nervous System	Gastrointestinal	Skin Ulcerations	Skin Histology	Hematologic	Thymus	Infection Onset (months)	Age at death (months)	Cause of death
1 (7)	A88V	M	37	apnea requiring intubation at birth; pneumogram demonstrating central apnea; respiratory failure; bronchopneumonia	cardiomegaly, dilated right atrium, dysplastic tricuspid valve	no gag reflex; small interruption of the left internal capsule by gray matter; subacute to chronic germinal matrix hemorrhage	low weight and height; zinc deficiency; thin distal esophagus; difficulty with oral feeds	intertriginous	baseline erythrokeratoderma: hyperkeratosis, acanthosis, mild lymphocytic infiltrate, retained granular layer, impetiginization with cocci ulcer: upper layers of epidermis with parakeratosis and extensive ballooning degeneration and necrosis, chronic inflammatory infiltrate in the dermis	macrocytic anemia	hypoplastic	1	5	respiratory failure, sepsis
2	A88V	F	34	hypoxia; hypercapnea; pneumogram suggestive of central apnea	patent foramen ovale	poor suck reflex; mild inferior vermian hypogensis	low weight; mild zinc deficiency	inguinal creases		normocytic anemia requiring transfusion; normal flow			1.75	respiratory failure, sepsis
3	A88V	M	33 + 6	increased work of breathing; acute respiratory acidosis requiring intubation at end of life	small patent ductus arteriorsus, moderately dilated left ventricle	normal brain ultrasound	low weight and height; enteral and parenteral nutritional supplementation	around gastric tube; diaper area; intertriginous	new red urticarial rash on leg: accentuated granular layer, hyperkeratosis, superficial dermal edema with perivascular mixed inflammatory infiltrate	normocytic anemia; immunoglobulins normal		2	6	fungemia with respiratory failure
4	A88V	F	32 + 6	increased work of breathing; intermittent apnea	patent foramen ovale v. small secundum atrial septal defect	no gag reflex; Dandy- Walker malformation with small germinal matrix hemorrhage and severe ventriculomegaly	difficulty with oral feeds	intertriginous	ulcer: upper third epidermis with pale cytoplasm	anemia requiring transfusion		0.5	2	congenital abnormality of the brainstem
5	A88V	M	35–36	hypoxia; immature lungs with patchy intralveolar; hemorrhage	hypotensive requiring pressors echocardiogram normal	microcephaly; acute hypoxic change in hippocampal neurons	low weight and height; low vitamin A; abnormal maturation of non- keratinized squamous epithelium in esophagus	lower abdomen		normocytic anemia; low IgG and IgA	thymic involution	0.5	0.75
6 (2)	A88V	M	33 + 4	apnea; atelectasis; cerebral irritability that required mechanical ventilation		hydrocephalus; intraventricular and parenchymal hemorrhage		scalp				1		Klebsiella sepsis
7 (3)	G45E	F	36	suspected aspiration pneumonia and bronchitis	pulmonary artery stenosis		nasogastric tube	perianal and genital	baseline erythrokeratoderma: hyperkeratosis, hypergranulosis, focal vacuolar degeneration				7
* (4, 5) twin	A G45E	M	31				failure to thrive despite enteral and parental alimentation	none	orthokeratotic hyperkeratosis, acanthosis, complete absense of granular layer; keratinocytes in the upper part of the epidermis were swollen and sometimes vacuolated				1	pseudomonas septicemia
* (4, 5) twin	B G45E	M	31	candida and staph pulmonary infection; edema and dyskeratotic laryngeal mucosae	cardiomegaly	dilation of left ventricle	low weight ana height; enteral nutrition for difficulty feeding; dyskeratotic esophageal mucosa	none	orthokeratotic hyperkeratosis with focal parakeratosis, focal granular layer	anemia; immunoglobulin and lymphocyte flow normal		3	5	candida and staphlococcal pulmonary infection
10* (5)	G45E	M	33				nasogastric tube	none					1	candida and staphlococcal septicemia
11* (5)	G45E	M	35	respiratory failure; candida pulmonary infection				none					0.3	candida pulmonary infection
12 (6)	G45E	F	36	respiratory insufficency due to aspiration		psychomotor delay	low weight and height	none	hyper- and parakeratosis, intraepidermal neutrophils, abundant bacteria and fungi, no ballooning degeneration	no immunologic incompetence		1	12	septicemia
13 (1)	G45E	M	36	viral upper respiratory infection				scalp		immunoglobulins and lymphocyte phenoytype panel wnl		3.5	6	septicemia

^*same family